McCune-Albright syndrome
ORPHA:562DiseaseNot applicableChildhood
Ассоциированные гены1
Фенотипы (HPO)53
Очень частый (80–99%)4
HP:0000138Ovarian cyst
HP:0000826Precocious puberty
HP:0005605Large cafe-au-lait macules with irregular margins
HP:0031072Abnormal endocrine physiology
Частый (30–79%)14
HP:0000035Abnormal testis morphology
HP:0000053Macroorchidism
HP:0000124Renal tubular dysfunction
HP:0000820Abnormality of the thyroid gland
HP:0000836Hyperthyroidism
HP:0001507Growth abnormality
HP:0002650Scoliosis
HP:0002693Abnormality of the skull base
HP:0002823Abnormality of femur morphology
HP:0005616Accelerated skeletal maturation
HP:0010734Fibrous dysplasia of the bones
HP:0010736Monostotic fibrous dysplasia
HP:0011821Abnormality of facial skeleton
HP:0030088Increased serum testosterone level
Периодический (5–29%)23
HP:0000117Renal phosphate wasting
HP:0000144Decreased fertility
HP:0000271Abnormality of the face
HP:0000324Facial asymmetry
HP:0000365Hearing impairment
HP:0000689Dental malocclusion
HP:0000845Elevated circulating growth hormone concentration
HP:0000853Goiter
HP:0000858Irregular menstruation
HP:0000870Increased circulating prolactin concentration
HP:0001733Pancreatitis
HP:0001742Nasal congestion
HP:0002020Gastroesophageal reflux
HP:0002653Bone pain
HP:0002749Osteomalacia
HP:0002757Recurrent fractures
HP:0003401Paresthesia
HP:0006719Benign gastrointestinal tract tumors
HP:0008768Inappropriate sexual behavior
HP:0010735Polyostotic fibrous dysplasia
HP:0010791Hyperplasia of the Leydig cells
HP:0012028Hepatocellular adenoma
HP:0020110Bone fracture
Очень редкий (1–4%)12
HP:0000572Visual loss
HP:0001396Cholestasis
HP:0001579Primary hypercortisolism
HP:0001876Pancytopenia
HP:0002148Hypophosphatemia
HP:0003002Breast carcinoma
HP:0003109Hyperphosphaturia
HP:0003118Increased circulating cortisol level
HP:0005528Bone marrow hypocellularity
HP:0012063Aneurysmal bone cyst
HP:0012115Hepatitis
HP:0030428Cutaneous myxoma
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.55 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)